A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6742800



Internal ID10151861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:126101150..126101382hg38UCSC Ensembl
Outerchr4:127022305..127022537hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728282
Supporting Variants
SamplesSSM053
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6742800
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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